Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases
affect over 30 million Americans. For more than 30 years, hundreds of researchers have …

Treatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the start
of a new era because of diagnostic and therapeutic advances relevant to this group of …

Background Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-
replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 …

Background Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease,
characterised by rapid psychomotor decline and epilepsy, is caused by deficiency of the …

The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …

Gene therapy is an emerging and powerful therapeutic tool to deliver functional genetic
material to cells in order to correct a defective gene. During the past decades, several …

Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …

The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate
cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL …

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive,
pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused …

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical …